rs386134188

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs386134188(-;-)

Make rs386134188(-;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

201704571

Gene

ALS2

is a	snp
is	mentioned by
dbSNP	rs386134188
dbSNP (classic)	rs386134188
ClinGen	rs386134188
ebi	rs386134188
HLI	rs386134188
Exac	rs386134188
Gnomad	rs386134188
Varsome	rs386134188
LitVar	rs386134188
Map	rs386134188
PheGenI	rs386134188
Biobank	rs386134188
1000 genomes	rs386134188
hgdp	rs386134188
ensembl	rs386134188
geneview	rs386134188
scholar	rs386134188
google	rs386134188
pharmgkb	rs386134188
gwascentral	rs386134188
openSNP	rs386134188
23andMe	rs386134188
SNPshot	rs386134188
SNPdbe	rs386134188
MSV3d	rs386134188
GWAS Ctlg	rs386134188

Max Magnitude

0

ClinVar
Risk	rs386134188(-;-)
Alt	rs386134188(-;-)
Reference	Rs386134188(T;T)
Significance	Pathogenic
Disease	Infantile-onset ascending hereditary spastic paralysis
Variation	info
Gene	ALS2
CLNDBN	Infantile-onset ascending hereditary spastic paralysis
Reversed	1
HGVS	NC_000002.11:g.202569294delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004662.4,

[PMID 12509863] An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred.